G6PD deficiency

G6PD:

Glucose-6-Phosphate Dehydrogenous is an enzyme found in cytoplasm of cells. It prevents cellular damage from Reactive Oxygen Species (ROS).

If in case G6PD is deficient, erythrocytes gets damage easily as it is more vulnerable and causes haemolytic anemia (RBC breakdown). It is an X- linked inheritance.

Fava beans, anti-malarial medication are likely to be avoided in G6PD deficiency, as it contains high amount of oxidative substance.

List of medicine to be avoided:

·         Acetoaminophen

·         Acetylsalisylic acid

·         Chloramphenicol

·         Colchicine

·         Diaminodiphenylsulfone

·         Gluburide

·         Isoniazide

·         L-Dopa

·         Methylene blue

·         Nitofurantoin

·         Phenazopyridine

·         Primaquine

·         Rasburicase

·         Streptomycin

·         Sulfacutamide

·         Sulfanilamide

·         Sulfapyridine

·         Sulfacytine

·         Sulfadiazine

·         Sulfaguanidine

·         Sulfamethoxazole

·         Sulfisoxazole

·         Trimethoprim

·         Tripelennamine

·         Vitamin-K

G6PD works as a catalyst in rate-limiting, first step of pentose-phosphate pathway. It reduces NADP (Nicotinamide Adenine Dinucleotide Phosphate) into NADPH.

NADPH is useful, especially in red blood cells, as it has limited capacity to repairs, if damaged. Reduced glutathione is used to convert hydrogen peroxide to water and protect cell damage.

It is observed that G6PD deficiency is protective in uncomplicated malaria, but not in severe malaria.

Signs and Symptoms:

In new born:

It causes hyperbilirubinemia. 20% of cases of kernicterus is associated with G6PD deficiency.

Lethargy (lack of energy), extreme sleep, poor muscle tone.

In adults:

Pale mucus membrane and conjunctiva

Jaundice

Fatigue

Splenomegaly

Concentrated urine

Evaluation:

New born:

-          Examine skin 

-          Total serum bilirubin level

-          G6PD deficiency screening test by rapid fluorescent spot test

Children and adults:

-          Complete Blood Count

-          Bilirubin level

-          Serum Aminotransferases 

-          Lactate dehydrogenase 

        Treatment:

New born: Phototherapy

Older patient:

-          Supportive care

-          Avoid certain offending agents

-          In severe cases: Blood transfusion is necessary

Differential diagnosis:

-          Autoimmune haemolytic anemia

-          Bilirubin conjugation disorder

-          Haemolytic disorder of newborn

-          Hereditary spherocytosis

-          Sickle cell anemia 

-          Thalassemia 

 To know more click on: https://www.ncbi.nlm.nih.gov/books/NBK470315/

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